Rare Diseases under letter "H"
Haas-Robinson syndrome ↗ H-ABC ↗ Haberland syndrome ↗ Haddad syndrome ↗ Hadziselimovic syndrome ↗ HAE ↗ HAE-I ↗ HAE-II ↗ HAE-III ↗ Hagberg-Santavuori disease ↗ Hailey-Hailey disease ↗ Haim-Munk syndrome ↗ Hair defect - photosensitivity - intellectual deficit ↗ Hairy cell leukemia ↗ Hairy elbows ↗ Hairy throat syndrome ↗ Hajdu-Cheney syndrome ↗ Halal-Setton-Wang syndrome ↗ Halal syndrome ↗ Halasz syndrome ↗ Hal-Berg-Rudolph syndrome ↗ Hallermam-Streiff-François syndrome, severe form ↗ Hallermam-Streiff like syndrome ↗ Hallermann-Streiff-François syndrome ↗ Hallervorden-Spatz syndrome ↗ Hall-Hittner syndrome ↗ Hall-Riggs syndrome ↗ Hallux varus - preaxial polysyndactyly ↗ Hamanishi-Ueba-Tsuji syndrome ↗ Hamano-Tsukamoto syndrome ↗ Hamartomatous intestinal polyposis ↗ Hamel cerebro-palato-cardiac syndrome ↗ Hamman-Rich syndrome ↗ HAM syndrome ↗ HANAC syndrome ↗ Hand and foot deformity - flat facies ↗ Hand-foot-genital syndrome ↗ Hand-foot-uterus syndrome ↗ Hand-Schüller-Christian disease ↗ Hanhart syndrome ↗ Hanot syndrome ↗ Hantavirosis ↗ Hantavirus fever ↗ Hapnes-Boman-Skeie syndrome ↗ Harboyan syndrome ↗ Hardcastle syndrome ↗ Hardikar syndrome ↗ Harding ataxia ↗ Hard-skin syndrome, Parana type ↗ HARD syndrome ↗ Harlequin ichthyosis ↗ Harlequin syndrome ↗ HARP syndrome ↗ Harrod syndrome ↗ Hartnup disorder ↗ Hartnup syndrome ↗ Hartsfield-Bixler-Demyer syndrome ↗ Hashimoto encephalitis ↗ Hashimoto hypothyroidism ↗ Hashimoto-Pritzker syndrome ↗ Hashimoto struma ↗ Hashimoto thyroiditis ↗ Haspeslagh-Fryns-Muelenaere syndrome ↗ Hawkinsinuria ↗ Hay-Wells syndrome ↗ Hb Bart's Hydrops Foetalis Syndrome ↗ HbC - beta-thalassemia ↗ HbE - beta-thalassemia ↗ HbH disease ↗ HbS - beta-thalassemia ↗ HbSC disease ↗ HbSD disease ↗ HbSE disease ↗ HCDD ↗ HCL ↗ HCS ↗ HDR syndrome ↗ Head and neck squamous cell carcinoma ↗ Hearing loss - encephaloneuropathy - obesity - valvulopathy ↗ Hearing loss - familial salivary gland insensitivity to aldosterone ↗ Heart defect - round face - congenital developmental delay ↗ Heart defects - limb shortening ↗ Heart defect - tongue hamartoma - polysyndactyly ↗ Heart-hand syndrome, Slovenian type ↗ Heart-hand syndrome, Spanish type ↗ Heart-hand syndrome type 1 ↗ Heart-hand syndrome type 2 ↗ Heart-hand syndrome type 3 ↗ Heart-limb syndrome type 3 ↗ Heart tumor of the child ↗ Heavy chain deposition disease ↗ Heavy-chain disease ↗ Hecht-Scott syndrome ↗ Hecht syndrome ↗ Heckenlively syndrome ↗ HEC syndrome ↗ Heide syndrome ↗ Heimler syndrome ↗ Heiner syndrome ↗ Heinz body anemia ↗ Helicoid peripapillary chorioretinal degeneration ↗ Heller syndrome ↗ Hemangioblastoma ↗ Hemangioma-thrombocytopenia syndrome ↗ Hemangiopericytoma ↗ Hematopoietic cell transplantation ↗ Hemi 3 syndrome ↗ Hemiconvulsion-Hemiplegia-Epilepsy syndrome ↗ Hemicorporal hypertrophy ↗ Hemifacial hyperplasia - strabismus ↗ Hemifacial hypertrophy ↗ Hemifacial microsomia ↗ Hemifacial microsomia - radial defects ↗ Hemifacial myohyperplasia ↗ Hemihyperplasia-multiple lipomatosis syndrome ↗ Hemihypertrophy ↗ Hemihypertrophy intestinal web corneal opacity ↗ Hemimegalencephaly ↗ Hemimelia ↗ Hemochromatosis due to defect in ferroportin ↗ Hemochromatosis type 2 ↗ Hemochromatosis type 3 ↗ Hemochromatosis type 4 ↗ Hemoglobin C - beta-thalassemia ↗ Hemoglobin C disease ↗ Hemoglobin D disease ↗ Hemoglobin E - beta-thalassemia ↗ Hemoglobin E disease ↗ Hemoglobin H disease ↗ Hemoglobinopathy Toms River ↗ Hemolytic anemia due to adenylate kinase deficiency ↗ Hemolytic anemia due to diphosphoglycerate mutase deficiency ↗ Hemolytic anemia due to erythrocyte adenosine deaminase overproduction ↗ Hemolytic anemia due to erythrocyte enolase deficiency ↗ Hemolytic anemia due to glucophosphate isomerase deficiency ↗ Hemolytic anemia due to glutathione reductase deficiency ↗ Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency ↗ Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency ↗ Hemolytic anemia due to red cell pyruvate kinase deficiency ↗ Hemolytic disease of the newborn with Kell allo-immunization ↗ Hemolytic-uremic syndrome with diarrhea ↗ Hemolytic-uremic syndrome without diarrhea ↗ Hemophilia ↗ Hemophilia A ↗ Hemophilia B ↗ Hemophilia C ↗ Hemorrhagic disease due to alpha-1 antitrypsin Pittsburgh mutation ↗ Hemorrhagic fever - renal syndrome ↗ Hemorrhagiparous thrombocytic dystrophy ↗ Hennekam-Beemer syndrome ↗ Hennekam-Koss-de Geest syndrome ↗ Hennekam syndrome ↗ Henoch-Schönlein purpura ↗ HEP ↗ Heparan-alpha-glucosaminide N-acetyltransferase deficiency ↗ Heparan sulfamidase deficiency ↗ Heparin-induced thrombocytopenia ↗ Hepatic amyloidosis with intrahepatic cholestasis ↗ Hepatic carnitine palmitoyl transferase 1 deficiency ↗ Hepatic carnitine palmitoyl transferase I deficiency ↗ Hepatic cystic hamartoma ↗ Hepatic fibrosis - renal cysts - intellectual deficit ↗ Hepatic glycogen phosphorylase deficiency ↗ Hepatic glycogen synthase deficiency ↗ Hepatic phosphorylase deficiency ↗ Hepatic veno-occlusive disease ↗ Hepatic veno-occlusive disease - immunodeficiency ↗ Hepatitis B re-infection following liver transplantation ↗ Hepatoblastoma ↗ Hepatocellular adenoma ↗ Hepatocellular carcinoma ↗ Hepatocellular carcinoma, childhood-onset ↗ Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 ↗ Hepatoencephalopathy due to COXPD1 ↗ Hepatoerythropoietic porphyria ↗ Hepatolenticular degeneration ↗ Hepatoportal sclerosis ↗ Hepatorenal glycogenosis ↗ Hepatorenal tyrosinemia ↗ Hepatosplenic T-cell lymphoma ↗ Hereditary acrokeratotic poikiloderma, Weary type ↗ Hereditary amyloid nephropathy ↗ Hereditary amyloid nephropathy due to Apolipoprotein AII variant ↗ Hereditary amyloid nephropathy due to Apolipoprotein AI variant ↗ Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant ↗ Hereditary amyloid nephropathy due to lysozyme variant ↗ Hereditary amyloidosis, Finnish type ↗ Hereditary amyloid precursor protein angiopathy ↗ Hereditary anetoderma ↗ Hereditary angioedema ↗ Hereditary angioedema type 1 ↗ Hereditary angioedema type 2 ↗ Hereditary angioedema type 3 ↗ Hereditary angioneurotic edema ↗ Hereditary angioneurotic edema type 1 ↗ Hereditary angioneurotic edema type 2 ↗ Hereditary angioneurotic edema type 3 ↗ Hereditary APP amyloid angiopathy ↗ Hereditary benign chorea ↗ Hereditary brachial plexus neuropathy ↗ Hereditary bradykinine-induced angioedema ↗ Hereditary brain cavernous angioma ↗ Hereditary breast and ovarian cancer syndrome ↗ Hereditary breast cancer ↗ Hereditary breast carcinoma ↗ Hereditary cerebral cavernoma ↗ Hereditary cerebral cavernous malformation ↗ Hereditary cerebral hemorrhage with amyloidosis ↗ Hereditary cerebral hemorrhage with amyloidosis, Dutch type ↗ Hereditary cerebral hemorrhage with amyloidosis, Icelandic type ↗ Hereditary ceruloplasmin deficiency ↗ Hereditary chin myoclonus ↗ Hereditary chin-trembling ↗ Hereditary chronic pancreatitis ↗ Hereditary combined deficiency of factors II, VII, IX and X ↗ Hereditary combined deficiency of vitamin K-dependent clotting factors ↗ Hereditary congenital controlateral synkinesia ↗ Hereditary congenital mirror movements ↗ Hereditary continuous muscle fiber activity ↗ Hereditary coproporphyria ↗ Hereditary cranium bifidum ↗ Hereditary cryohydrocytosis with reduced stomatin ↗ Hereditary cystatin C amyloid angiopathy ↗ Hereditary dysphasic dementia ↗ Hereditary elliptocytosis ↗ Hereditary endotheliopathy - retinopathy - nephropathy - stroke ↗ Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas) ↗ Hereditary expansile polyostotic osteolytic dysplasia ↗ Hereditary ferritinopathy ↗ Hereditary folate malabsorption ↗ Hereditary fructose-1-phosphate aldolase deficiency ↗ Hereditary fructosemia ↗ Hereditary geniospasm ↗ Hereditary glaucoma ↗ Hereditary hemorrhagic telangiectasia ↗ Hereditary hypercarotenemia and vitamin A deficiency ↗ Hereditary hypercholanemia ↗ Hereditary hyperekplexia ↗ Hereditary hyperexplexia ↗ Hereditary hyperferritinemia with congenital cataracts ↗ Hereditary hyperphosphatasia ↗ Hereditary hypotrichosis simplex ↗ Hereditary hypotrichosis simplex of the scalp ↗ Hereditary hypotrichosis with recurrent skin vesicles ↗ Hereditary inclusion body myopathy ↗ Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia ↗ Hereditary inclusion body myositis ↗ Hereditary isolated clubfoot due to 17q23.1-q23.2 microduplication syndrome ↗ Hereditary juvenile meganoblastic anemia due to intrinsic factor deficiency ↗ Hereditary keratitis ↗ Hereditary keratoacanthoma ↗ Hereditary leiomyomatosis ↗ Hereditary leiomyomatosis with renal carcinoma ↗ Hereditary leiomyomatosis with renal cell cancer ↗ Hereditary lymphedema type I ↗ Hereditary lymphedema type II ↗ Hereditary macular atrophy ↗ Hereditary methemoglobinemia ↗ Hereditary mixed polyposis syndrome ↗ Hereditary motor and sensory neuropathy, Lom type ↗ Hereditary motor and sensory neuropathy, Okinawa type ↗ Hereditary motor and sensory neuropathy, proximal type ↗ Hereditary motor and sensory neuropathy, Russe Type ↗ Hereditary motor and sensory neuropathy type 1 ↗ Hereditarymotor and sensoryneuropathy type 2 ↗ Hereditary motor and sensory neuropathy type 3 ↗ Hereditary motor and sensory neuropathy type 4 ↗ Hereditary motor and sensory neuropathy type 5 ↗ Hereditary motor and sensory neuropathy type 6 ↗ Hereditary motor and sensory neuropathy with deafness, intellectual deficit and absent sensory large myelinated fibers ↗ Hereditary mucoepithelial dysplasia ↗ Hereditary mucosal leukokeratosis ↗ Hereditary multi-infarct dementia ↗ Hereditary multiple cutaneous leiomyomas ↗ Hereditary multiple glomangiomas ↗ Hereditary myoclonus - progressive distal muscular atrophy ↗ Hereditary myopathy with early respiratory failure ↗ Hereditary neuralgic amyotrophy ↗ Hereditary neurocutaneous angioma ↗ Hereditary neuropathy with liability to pressure palsies ↗ Hereditary neutrophilia ↗ Hereditary non histamine-induced angioedema ↗ Hereditary nonpolyposis colon cancer ↗ Hereditary nonpolyposis colorectal cancer ↗ Hereditary North American Indian childhood cirrhosis ↗ Hereditary ochronosis ↗ Hereditary orotic aciduria ↗ Hereditary painful callosities ↗ Hereditary palmoplantar keratoderma, Gamborg-Nielsen type ↗ Hereditary parathyroids hyperplasia ↗ Hereditary Parkinson disease ↗ Hereditary persistence of alpha-fetoprotein ↗ Hereditary persistence of fetal hemoglobin - beta-thalassemia ↗ Hereditary persistence of fetal hemoglobin - sickle cell disease ↗ Hereditary pheochromocytoma-paraganglioma ↗ Hereditary prepubertal gynecomastia ↗ Hereditary progressive arthroophthalmopathy ↗ Hereditary progressive dystonia with marked diurnal fluctuation ↗ Hereditary progressive mucinous histiocytosis ↗ Hereditary pulmonary arterial hypertension ↗ Hereditary punctate palmoplantar keratoderma ↗ Hereditary pyropoikilocytosis ↗ Hereditary renal amyloidosis ↗ Hereditary renal amyloidosis due to Apolipoprotein AII variant ↗ Hereditary renal amyloidosis due to Apolipoprotein AI variant ↗ Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant ↗ Hereditary renal amyloidosis due to lysozyme variant ↗ Hereditary renal hypouricemia ↗ Hereditary resistance to anti-vitamin K ↗ Hereditary sclerosing poikiloderma Weary type ↗ Hereditary sclerosing poikiloderma with tendon and pulmonary involvement ↗ Hereditary sensorimotor neuropathy with hyperelastic skin ↗ Hereditary sensory and autonomic neuropathy type 1 ↗ Hereditary sensory and autonomic neuropathy type 1B ↗ Hereditary sensory and autonomic neuropathy type 1 with cough and gastrooesophageal reflux ↗ Hereditary sensory and autonomic neuropathy type 2 ↗ Hereditary sensory and autonomic neuropathy type 3 ↗ Hereditary sensory and autonomic neuropathy type 4 ↗ Hereditary sensory and autonomic neuropathy type 5 ↗ Hereditary sensory and autonomic neuropathy with deafness and global delay ↗ Hereditary sensory and autonomic neuropathy with spastic paraplegia ↗ Hereditary site-specific ovarian cancer syndrome ↗ Hereditary spherocytosis ↗ Hereditary symmetrical aplastic nevi of temples ↗ Hereditary thermosensitive neuropathy ↗ Hereditary thrombocythemia ↗ Hereditary thrombocytopenia with normal platelets ↗ Hereditary thrombophilia due to congenital antithrombin 3 deficiency ↗ Hereditary thrombophilia due to congenital antithrombin deficiency ↗ Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency ↗ Hereditary thrombophilia due to congenital HRG deficiency ↗ Hereditary thrombophilia due to congenital protein C deficiency ↗ Hereditary thrombophilia due to congenital protein S deficiency ↗ Hereditary unconjugated hyperbilirubinemia ↗ Hereditary unconjugated hyperbilirubinemia type 1 ↗ Hereditary unconjugated hyperbilirubinemia type 2 ↗ Hereditary vascular retinopathy ↗ Hereditary vascular retinopathy - Raynaud phenomenon - migraine ↗ Hereditary whispering dysphonia ↗ Hereditary Willebrand disease ↗ Hereditary woolly hair syndrome ↗ Hereditary wooly hair syndrome ↗ Hereditary xerocytosis ↗ Heredopathia atactica polyneuritiformis ↗ Heritable pulmonary arterial hypertension ↗ Hermansky-Pudlak syndrome ↗ Hermansky-Pudlak syndrome type 2 ↗ Hermansky-Pudlak syndrome type 7 ↗ Hermansky-Pudlak syndrome type 8 ↗ Hermansky-Pudlak syndrome type 9 ↗ Hermansky-Pudlak syndrome with neutropenia ↗ Hermansky-Pudlak syndrome without pulmonary fibrosis ↗ Hermansky-Pudlak syndrome with pulmonary fibrosis ↗ Hernandez-Aguirre Negrete syndrome ↗ Hernandez-Fragoso syndrome ↗ HERNS syndrome ↗ Herpes simplex encephalitis ↗ Herpes simplex neuroinvasion ↗ Herpes simplex virus keratitis ↗ Herpes virus antenatal infection ↗ Herpetic encephalitis ↗ Herpetic keratitis ↗ Herpetiform pemphigus ↗ Hers disease ↗ Herva disease ↗ Heterotaxia ↗ Heterotaxy syndrome ↗ Heterozygous OSMED ↗ Heterozygous otospondylomegaepiphyseal dysplasia ↗ Hexosaminidase A deficiency ↗ Hexosaminidases A and B deficiency ↗ HFGS ↗ HGPPS ↗ HGSNAT deficiency ↗ HHE syndrome ↗ HHH syndrome ↗ HHML ↗ HHT ↗ HI ↗ Hidrotic ectodermal dysplasia ↗ Hidrotic ectodermal dysplasia, Christianson-Fourie type ↗ Hidrotic ectodermal dysplasia, Halal type ↗ HIE ↗ High-grade dysplasia in patients with Barrett esophagus ↗ High-grade ependymoma ↗ High scapula ↗ HIGM1 ↗ HIGM2 ↗ HIGM3 ↗ HIGM4 ↗ HIGM5 ↗ HI/HA syndrome ↗ Hilar CCA ↗ Hilar cholangiocarcinoma ↗ Hillig syndrome ↗ Hinman syndrome ↗ Hinson-Pepys disease ↗ Hip dysplasia, Beukes type ↗ Hip dysplasia - enchondromata - ecchondroma ↗ Hipo syndrome ↗ Hippel-Lindau disease ↗ Hirayama disease ↗ Hirschsprung disease ↗ Hirschsprung disease and intellectual deficit due to 2q22 microdeletion ↗ Hirschsprung disease and intellectual deficit due to a point mutation ↗ Hirschsprung disease and intellectual deficit due to del(2)(q22) ↗ Hirschsprung disease and intellectual deficit due to monosomy 2q22 ↗ Hirschsprung disease - deafness - polydactyly ↗ Hirschsprung disease - ganglioneuroblastoma ↗ Hirschsprung disease - intellectual deficit ↗ Hirschsprung disease - nail hypoplasia - dysmorphism ↗ Hirschsprung disease - type D brachydactyly ↗ Hirschsprung disease with pigmentary anomaly ↗ Hirsutism - congenital gingival hyperplasia ↗ Hirsutism - skeletal dysplasia - intellectual deficit ↗ His bundle tachycardia ↗ Histidase deficiency ↗ Histidinemia ↗ Histidinuria - renal tubular defect ↗ Histiocytic sarcoma ↗ Histiocytoid cardiomyopathy ↗ Histiocytosis X ↗ Histiocytosis X in childhood and adulthood ↗ Histiocytosis X specific to adulthood ↗ Histiocytosis X specific to childhood ↗ Histoplasmosis ↗ HI syndrome ↗ HIT ↗ Hittner-Hirsch-Kreh syndrome ↗ HLA class 2-negative severe combined immunodeficiency ↗ HLRCC ↗ HMC syndrome ↗ HMG-CoA synthase deficiency ↗ HMN5B ↗ HMSN 3 ↗ HMSN 4 ↗ HMSN 5 ↗ HMSNP ↗ HMSNR ↗ HNPCC ↗ HNPP ↗ HNSCC ↗ Hodgkin lymphoma, classical ↗ Hoepffner-Dreyer-Reimers syndrome ↗ Hoffman's syndrome ↗ HOGA ↗ Holmes-Collins syndrome ↗ Holmes-Gang syndrome ↗ Holoacardius amorphus ↗ Holocarboxylase synthetase deficiency ↗ Holoprosencephaly ↗ Holoprosencephaly - caudal dysgenesis ↗ Holoprosencephaly - craniosynostosis ↗ Holoprosencephaly - ectrodactyly - cleft lip palate ↗ Holoprosencephaly - postaxial polydactyly ↗ Holoprosencephaly - radial heart renal anomalies ↗ Holt-Oram syndrome ↗ Holzgreve-Wagner-Rehder syndrome ↗ HOMG1 ↗ HOMG2 ↗ HOMG3 ↗ HOMG4 ↗ Homocarnosinase deficiency ↗ Homocarnosinosis ↗ Homocystinuria due to cystathionine beta-synthase deficiency ↗ Homocystinuria due to defect in methylation type cbl E ↗ Homocystinuria due to methionine synthase deficiency, Cbl G type ↗ Homocystinuria due to methylenetetrahydrofolate reductase deficiency ↗ Homocystinuria without methylmalonic aciduria ↗ Homogentisic acid oxidase deficiency ↗ Homozygous familial hypobetalipoproteinemia ↗ Homozygous hereditary elliptocytosis ↗ Honey-droplet corneal dystrophy ↗ Hookworms infection ↗ Hoon-Hall syndrome ↗ Horizontal gaze palsy with progressive scoliosis ↗ Horton disease ↗ Houlston-Ironton-Temple syndrome ↗ House allergic alveolitis ↗ Hoyeraal-Hreidarsson syndrome ↗ HP ↗ HPD with marked diurnal fluctuation ↗ HPE ↗ HPMR ↗ HPP ↗ HPRT1 partial deficiency ↗ HPRT complete deficiency ↗ HPRT deficiency, grade I ↗ HPRT deficiency grade IV ↗ HPRT partial deficiency ↗ HPRT-related gout ↗ HPRT-related hyperuricemia ↗ HPS ↗ HPS2 ↗ HPS7 ↗ HPS8 ↗ HPS9 ↗ HPS without pulmonary fibrosis ↗ HPS with pulmonary fibrosis ↗ HPT-JT ↗ HSAN 1 ↗ HSAN1B ↗ HSAN 2 ↗ HSAN 3 ↗ HSAN 4 ↗ HSAN 5 ↗ HSAN with cough and gastroesophageal reflux ↗ HSAN with deafness and global delay ↗ HSAN with spastic paraplegia ↗ HSD deficiency ↗ HSV encephalitis ↗ HSV keratitis ↗ H syndrome ↗ Hughes-Stovin syndrome ↗ Hughes syndrome ↗ Humeroradioulnar synostosis ↗ Humerospinal dysostosis ↗ Humero-spinal dysostosis ↗ Humeroulnar synostosis ↗ Humerus trochlea aplasia ↗ Hunter-Jurenka-Thompson syndrome ↗ Hunter-McAlpine craniosynostosis ↗ Hunter-Rudd-Hoffmann syndrome ↗ Hunter syndrome ↗ Hunter syndrome type A ↗ Hunter syndrome type B ↗ Hunter-Thompson-Reed syndrome ↗ Huntington chorea ↗ Huntington disease ↗ Huntington disease-like 1 ↗ Huntington disease-like 2 ↗ Huntington disease-like 3 ↗ Huriez syndrome ↗ Hurler-Scheie syndrome ↗ Hurler syndrome ↗ Hutchinson-Gilford progeria syndrome ↗ HVR ↗ Hyaline body myopathy ↗ Hyaline membrane disease ↗ Hyalinosis cutis et mucosae ↗ Hyaluronidase deficiency ↗ Hybrid acute leukemia ↗ Hydatidiform complete mole ↗ Hydatidiform mole ↗ Hydatidiform partial mole ↗ Hydatidosis ↗ Hyde Forster-McCarthy-Berry syndrome ↗ Hydranencephaly ↗ Hydrocephalus - agyria - retinal dysplasia ↗ Hydrocephalus-agyria-retinal dysplasia syndrome ↗ Hydrocephalus - blue sclerae - nephropathy ↗ Hydrocephalus - cleft palate - joint contractures ↗ Hydrocephalus - costovertebral dysplasia - Sprengel anomaly ↗ Hydrocephalus - endocardial fibroelastosis - cataract ↗ Hydrocephalus - obesity - hypogonadism ↗ Hydrocephalus with stenosis of aqueduct of Sylvius ↗ Hydrocephaly/hydranencephaly due to cerebral vasculopathy ↗ Hydrocephaly - low insertion umbilicus ↗ Hydrocephaly - tall stature - joint laxity ↗ Hydrolethalus ↗ Hydromelia ↗ Hydrometrocolpos - postaxial polydactyly ↗ Hydronephrosis - inverted smile ↗ Hydrops - ectopic calcification - motheaten ↗ Hydrops fetalis ↗ Hydrops fetalis of Bart ↗ Hydroxymethylglutaricaciduria ↗ Hygroma cysticum ↗ Hymenolepiasis ↗ Hyperadrenocorticism ↗ Hyperammonemia due to N-acetylglutamate synthetase deficiency ↗ Hyperammonemia - hypoornithinemia - hypocitrullinemia - hypoargininemia - hypoprolinemia ↗ Hyperandrogenism due to cortisone reductase deficiency ↗ Hyperargininemia ↗ Hyperbilirubinemia, Rotor type ↗ Hyperbilirubinemia type 2 ↗ Hyperbiliverdinemia ↗ Hypercalciuria - bilateral macular coloboma ↗ Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency ↗ Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency ↗ Hypercortisolism ↗ Hyperdibasic aminoaciduria type 1 ↗ Hyperdibasic aminoaciduria type 2 ↗ Hyperekplexia ↗ Hyperekplexia - epilepsy ↗ Hypereosinophilic syndromes ↗ Hyperglycerolemia ↗ Hypergonadotropic hypogonadism - cataract syndrome ↗ Hypergonadotropic ovarian dysgenesis ↗ Hyper-IgD syndrome ↗ Hyper-IgM syndrome due to CD40 deficiency ↗ Hyper-IgM syndrome due to CD40L deficiency ↗ Hyper-IgM syndrome due to CD40 ligand deficiency ↗ Hyper-IgM syndrome due to UNG deficiency ↗ Hyper-IgM syndrome due to uracil N glycosylase ↗ Hyper-IgM syndrome type 1 ↗ Hyper-IgM syndrome type 2 ↗ Hyper-IgM syndrome type 3 ↗ Hyper-IgM syndrome type 4 ↗ Hyper-IgM syndrome type 5 ↗ Hyperimidodipeptiduria ↗ Hyperimmunoglobinemia D with recurrent fever ↗ Hyperimmunoglobulinemia D with periodic fever ↗ Hyperimmunoglobulin E-recurrent infection syndrome ↗ Hyperimmunoglobulin E syndrome type 1 ↗ Hyperimmunoglobulin E syndrome type 2 ↗ Hyperinsulinemic hypoglycemia due to 3-hydroxylacyl-CoA dehydrogenase deficiency ↗ Hyperinsulinemic hypoglycemia due to glucokinase deficiency ↗ Hyperinsulinemic hypoglycemia due to HNF4A deficiency ↗ Hyperinsulinemic hypoglycemia due to INSR deficiency ↗ Hyperinsulinemic hypoglycemia due to insulin receptor deficiency ↗ Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form ↗ Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form ↗ Hyperinsulinemic hypoglycemia due to UCP2 deficiency ↗ Hyperinsulinism due to 3-hydroxylacyl-CoA dehydrogenase deficiency ↗ Hyperinsulinism due to glucokinase deficiency ↗ Hyperinsulinism due to glutamodehydrogenase deficiency ↗ Hyperinsulinism due to glutamodehydrogenase deficiency ↗ Hyperinsulinism due to HADH deficiency ↗ Hyperinsulinism due to HNF4A deficiency ↗ Hyperinsulinism due to INSR deficiency ↗ Hyperinsulinism due to monocarboxylate transporter 1 deficiency ↗ Hyperinsulinism due to SCHAD deficiency ↗ Hyperinsulinism due to short-chain 3-hydroxylacyl-CoA dehydrogenase deficiency ↗ Hyperinsulinism due to SLC16A1 deficiency ↗ Hyperinsulinism due to UCP2 deficiency ↗ Hyperinsulinism-hyperammonemia syndrome ↗ Hyperkalemic periodic paralysis ↗ Hyperkalemic PP ↗ Hyperkalemic renal tubular acidosis ↗ Hyperkaliemia - hypertension, Gordon type ↗ Hyperkeratosis - hyperpigmentation syndrome ↗ Hyperkeratosis lenticularis perstans ↗ HyperKPP ↗ Hyperlipidemia due to hepatic triglyceride lipase deficiency ↗ Hyperlipidemia type 3 ↗ Hyperlipoproteinemia type 1 ↗ Hyperlipoproteinemia type 3 ↗ Hyperlipoproteinemia type 4 ↗ Hyperlipoproteinemia type 5 ↗ Hyperlysinemia ↗ Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency ↗ Hypernychthemeral syndrome ↗ Hyperornithinemia ↗ Hyperornithinemia - gyrate atrophy of choroid and retina ↗ Hyperornithinemia-hyperammonemia-homocitrullinuria ↗ Hyperostosid corticalis deformans juvenilis ↗ Hyperostosis corticalis generalisata ↗ Hyperostosis frontalis interna ↗ Hyperostosis generalisata with striations ↗ Hyperoxaluria ↗ Hyperoxaluria non1-non2 type ↗ Hyperparathyroidism - jaw tumor syndrome ↗ Hyperphenylalaninemia ↗ Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency ↗ Hyperphenylalaninemia due to BH4 deficiency ↗ Hyperphenylalaninemia due to dehydratase deficiency ↗ Hyperphenylalaninemia due to dihydropteridine reductase deficiency ↗ Hyperphenylalaninemia due to GTP cyclohydrolase deficiency ↗ Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency ↗ Hyperphenylalaninemia due to tetrahydrobiopterin deficiency ↗ Hyperphenylalaninemic embryopathy ↗ Hyperphosphatasia intellectual deficiency syndrome ↗ Hyperpipecolatemia ↗ Hyperplastic polyposis syndrome ↗ HyperPP ↗ Hyperprolinemia type 1 ↗ Hyperprolinemia type II ↗ Hypersensitivity angiitis ↗ Hypersensitivity pneumonitis ↗ Hypertelorism - hypospadias - polysyndactyly syndrome ↗ Hypertelorism-microtia-facial clefting syndrome ↗ Hypertelorism, Teebi Type ↗ Hypertension due to gain-of-function mutations in the mineralocorticoid receptor ↗ Hypertensive hyperkalemia ↗ Hyperthermia of anesthesia ↗ Hypertrichosis - atrophic skin - ectropion - macrostomia ↗ Hypertrichosis cubiti - short stature ↗ Hypertrichosis lanuginosa congenita ↗ Hypertrichosis universalis ↗ Hypertrichosis universalis congenita, Ambras type ↗ Hypertrichotic osteochondrodysplasia ↗ Hypertrophic cardiomyopathy due to intensive athletic training ↗ Hypertrophic neuropathy of infancy ↗ Hypertrophic or verrucous lupus erythematosus ↗ Hypertryptophanemia ↗ Hyperuricemia - anemia - renal failure ↗ Hyperzincemia and hypercalprotectinemia ↗ Hypnic headache ↗ Hypocalcemic rickets ↗ Hypocalcified amelogenesis imperfecta ↗ Hypochondrogenesis ↗ Hypochondroplasia ↗ Hypocomplementemic leucocytoclasic vasculitis ↗ Hypodermyiasis ↗ Hypodontia - dysplasia of nails ↗ Hypodontia - nail dysgenesis ↗ Hypogenetic lung syndrome ↗ Hypoglossia - hypodactyly ↗ Hypogonadism - gynecomastia - X-linked intellectual deficit ↗ Hypogonadism - mitral valve prolapse - intellectual deficit ↗ Hypogonadotropic hypogonadism - frontoparietal alopecia ↗ Hypogonadotropic hypogonadism - retinitis pigmentosa ↗ Hypohidrotic ectodermal dysplasia ↗ Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia ↗ Hypohidrotic ectodermal dysplasia with immunodeficiency ↗ Hypokalemic alkalosis - hypercalciuria ↗ Hypokalemic periodic paralysis ↗ Hypomagnesemia caused by selective magnesium malabsorption ↗ Hypomagnesemia intestinal type 1 ↗ Hypomagnesemia renal type 3 ↗ Hypomagnesemia with hypocalciuria ↗ Hypomagnesemia with normocalciuria ↗ Hypomandibular faciocranial dysostosis ↗ Hypomaturation amelogenesis imperfecta ↗ Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism ↗ Hypomelanosis of Ito ↗ Hypomelanotic and hypermelanotic cutaneous macules - retarded growth - intellectual deficiency ↗ Hypomyelination - congenital cataract ↗ Hypomyelination - hypogonadotropic hypogonadism - hypodontia ↗ Hypomyelination neuropathy - arthrogryposis ↗ Hypomyelination with atrophy of basal ganglia and cerebellum ↗ Hypoparathyroidism - Addison's disease - mucocutaneous candidiasis ↗ Hypoparathyroidism - deafness - renal disease ↗ Hypoparathyroidism - intellectual deficit - dysmorphism ↗ Hypoparathyroidism - short stature - intellectual deficit - seizures ↗ Hypophosphatasia ↗ Hypophosphatemic rickets ↗ Hypophosphatemic rickets with hypercalciuria ↗ Hypopigmentation-deafness syndrome ↗ Hypopigmentation - immunodeficiency with or without neurologic impairment ↗ hypopigmentation - neurologic impairment ↗ Hypopituitarism due to empty sella turcica syndrome ↗ Hypopituitarism - micropenis - cleft lip/palate ↗ Hypopituitarism - microphthalmia ↗ Hypopituitarism - postaxial polydactyly ↗ Hypopituitarism - short stature - skeletal anomalies ↗ Hypoplasia of the mitral valve annulus ↗ Hypoplasminogenemia ↗ Hypoplastic amelogenesis imperfecta ↗ Hypoplastic left heart syndrome ↗ Hypoplastic tibiae - post axial polydactyly ↗ Hypoprebetalipoproteinemia - acanthocytosis - retinitis pigmentosa - pallidal degeneration ↗ Hypoproconvertinemia ↗ Hypoprothrombinemia ↗ Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism ↗ Hypospadias - dysphaghia ↗ Hypospadias - hypertelorism ↗ Hypospadias-hypertelorism-coloboma and deafness ↗ Hypospadias - intellectual deficit, Goldblatt type ↗ Hypotelorism - cleft palate - hypospadias ↗ Hypothalamic hamartoblastoma syndrome ↗ Hypothalamic hamartomas with gelastic seizures ↗ Hypothyroidism - cleft palate ↗ Hypothyroidism due to deficient transcription factors involved in pituitary development or function ↗ Hypothyroidism due to TSH receptor mutations ↗ Hypothyroidism - dysmorphism - postaxial polydactyly - intellectual deficit ↗ Hypotonia and ichthyosis due to dolichol phosphate deficiency ↗ Hypotonia - cystinuria syndrome ↗ Hypotonia - failure to thrive - microcephaly ↗ Hypotonia with lactic acidemia and hyperammonemia ↗ Hypotrichosis - congenital ichthyosis ↗ Hypotrichosis-intellectual deficit, Lopes type ↗ Hypotrichosis - lymphedema - telangiectasia ↗ Hypotrichosis simplex ↗ Hypotrichosis simplex of the scalp ↗ Hypotrichosis with juvenile macular degeneration ↗ Hypotrichosis with juvenile macular dystrophy ↗ Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency ↗ Hypoxanthine guanine phosphoribosyltransferase complete deficiency ↗ Hypoxanthine-guanine phosphoribosyltransferase deficiency, grade I ↗ Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV ↗ Hypoxanthine guanine phosphoribosyltransferase partial deficiency ↗ Hypoxic and ischemic brain injury in the newborn ↗ Hypoxic-ischemic encephalopathy ↗ HYPP ↗ Hystiocytic necrotizing lymphadenitis ↗